HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38074993C>G , CM000664.2:g.38074993C>G | GRCh38 |
NC_000002.11:g.38302136C>G , CM000664.1:g.38302136C>G | GRCh37 |
NC_000002.10:g.38155640C>G | NCBI36 |
NG_008386.2:g.6109G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000490576.2:c.396G>C | ENSP00000478839.2:p.Met132Ile | |
ENST00000610745.5:c.396G>C MANE Select | ENSP00000478561.1:p.Met132Ile | |
ENST00000490576.1:c.396G>C | ENSP00000478839.1:p.Met132Ile | |
ENST00000494864.1:c.-70-3683G>C | ENSP00000479876.1:n.-70-3683G>C | |
ENST00000610745.4:c.396G>C | ENSP00000478561.1:p.Met132Ile | |
ENST00000613082.1:n.376-585G>C | ||
ENST00000614273.1:c.396G>C | ENSP00000483678.1:p.Met132Ile | |
NM_000104.3:c.396G>C | NP_000095.2:p.Met132Ile | |
NM_000104.4:c.396G>C MANE Select | NP_000095.2:p.Met132Ile |